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See other CTNS CNV Assays ›
Gene Symbol
CTNS
Assay Reference Genome
Location

Chr.17:3650291 on build GRCh38
Cytoband
17p13.2
Assay ID Hs03971382_cn
Size
Availability Made To Order
Catalog # 4400291
Price
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Assay Details

Target Gene Details

Entrez Gene ID:

 1497

Gene Name:

 cystinosin, lysosomal cystine transporter

Gene Aliases:

 CTNS-LSB, PQLC4

Location:

 Chr.17:3636391-3663103 on Build GRCh38

Assay Gene Location:

 Within Intron 5
Gene Symbol Transcript Accession Exon Location Assay Transcript Location Protein ID
CTNS NM_001031681.2 NP_001026851.2
NM_004937.2 NP_004928.2
XM_005256485.2 XP_005256542.1
XM_006721463.2 XP_006721526.1
XM_006721464.2 XP_006721527.1
XM_011523691.2 XP_011521993.1
XM_011523692.2 XP_011521994.1
XM_017024254.1 XP_016879743.1
XM_017024255.1 XP_016879744.1
XM_017024256.1 XP_016879745.1
XM_017024257.1 XP_016879746.1
XM_017024258.1 XP_016879747.1
AJ222967.1 CAA11021.1
AK292019.1
AK296178.1
AK297525.1
AK309044.1
AK309651.1
BC032850.2 AAH32850.1
CR542058.1 CAG46855.1
KU178003.1
KU178004.1
KU178005.1
KU178006.1

Target Copy Number Variation Details

DGV Version:

 Release date: 2016-05-15, GRCh GRCh38
Target
Variation		 Location CNV
Subtype		 Genes
dgv3085n100 Chr.17:3595117 - 3665113 on Build GRCh38 Loss TRPV1 SHPK P2RX5-TAX1BP3 TAX1BP3 CTNS
esv3639752 Chr.17:3601104 - 3658235 on Build GRCh38 Loss TRPV1 SHPK CTNS
nsv1055740 Chr.17:3381841 - 3890153 on Build GRCh38 Gain P2RX5 TRPV1 ITGAE NCBP3 EMC6 GSG2 OR3A3 TAX1BP3 ASPA SPATA22 OR1E2 SHPK OR1E1 CAMKK1 OR3A2 P2RX5-TAX1BP3 TRPV3 CTNS
dgv882e212 Chr.17:3585851 - 3654158 on Build GRCh38 Loss TRPV1 SHPK CTNS
esv3572354 Chr.17:3528675 - 3654158 on Build GRCh38 Gain TRPV1 SHPK TRPV3 CTNS
esv2762588 Chr.17:3602274 - 3654159 on Build GRCh38 Loss TRPV1 SHPK CTNS
nsv1947 Chr.17:3641882 - 3673842 on Build GRCh38 Insertion P2RX5 EMC6 P2RX5-TAX1BP3 TAX1BP3 CTNS
dgv5423n54 Chr.17:3601261 - 3665107 on Build GRCh38 Loss TRPV1 SHPK P2RX5-TAX1BP3 TAX1BP3 CTNS
nsv952107 Chr.17:3640507 - 3691806 on Build GRCh38 Deletion P2RX5 EMC6 P2RX5-TAX1BP3 TAX1BP3 CTNS
nsv1065489 Chr.17:2631416 - 3948349 on Build GRCh38 Gain P2RX5 OR1G1 OR1D5 NCBP3 EMC6 OR3A1 OR3A3 OR1A1 OR3A4P LOC101927911 LOC105371591 MIR6776 P2RX1 OR1E2 SHPK OR1E1 CAMKK1 CLUH OR1A2 TRPV3 OR1D4 CTNS ATP2A3 MIR1253 TRPV1 ITGAE GSG2 TAX1BP3 ASPA SPATA22 LOC105371592 CCDC92B OR3A2 PAFAH1B1 P2RX5-TAX1BP3 RAP1GAP2 OR1D2
nsv574237 Chr.17:3486822 - 3729542 on Build GRCh38 Loss SPATA22 P2RX5 TRPV1 SHPK ITGAE EMC6 P2RX5-TAX1BP3 GSG2 TRPV3 TAX1BP3 ASPA CTNS
nsv516676 Chr.17:3553441 - 3652130 on Build GRCh38 Gain+Loss TRPV1 SHPK TRPV3 CTNS
esv2662762 Chr.17:3601001 - 3658179 on Build GRCh38 Deletion TRPV1 SHPK CTNS
nsv833342 Chr.17:3626188 - 3806082 on Build GRCh38 Loss P2RX5 SHPK ITGAE EMC6 P2RX5-TAX1BP3 GSG2 TAX1BP3 CTNS
dgv358n27 Chr.17:3601921 - 3664167 on Build GRCh38 Loss TRPV1 SHPK P2RX5-TAX1BP3 TAX1BP3 CTNS

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More Information


Additional Information:

For this assay, SNP(s) [rs114724281] are located under a primer or probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

Set Membership:

 Intragenic Intronic Non-exonic DGV Variation

Panther Classification:

Gene Ontology Categories:

Function(s) Process(es)


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